Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The ima...Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.展开更多
Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epitheli...Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin(cytoplasmic membranous pattern) and CD56,and negative for smooth muscle actin, synaptophysin,CD117, CD45, myogenin, CAM5.2, pancytokeratin,WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1(SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.展开更多
BACKGROUND Rhabdoid tumours of the central nervous system are highly malignant and extremely rare in adults.To the best of our knowledge,only 87 cases of malignant rhabdoid tumour have been reported to date,inclusive ...BACKGROUND Rhabdoid tumours of the central nervous system are highly malignant and extremely rare in adults.To the best of our knowledge,only 87 cases of malignant rhabdoid tumour have been reported to date,inclusive of 4 cases with presumed radiation-induced aetiology.We report a case of malignant rhabdoid tumour in an adult with presumed radiation-induced aetiology to enrich the armamentarium of this disease entity,which may have some implications for early diagnosis and treatment of this rare disease in the future.CASE SUMMARY A 27-year-old male,who was exposed to cranial irradiation at the age of 4 years as part of the treatment for acute lymphoblastic leukaemia,presented with symptoms of raised intracranial pressure for one week.Brain magnetic resonance imaging revealed a heterogeneously enhancing lesion at the hypothalamus.Stereotactic biopsy was performed.Histopathological examination of the lesion showed malignant rhabdoid tumour.The disease progressed rapidly,with manifestation of leptomeningeal spread.He was started on craniospinal irradiation but treatment was suspended after 5.4 Gy,as he developed myelosuppression.His clinical condition deteriorated rapidly,and he succumbed to his illness within 2 mo.CONCLUSION This fifth case of radiation-induced central nervous system rhabdoid tumour reenforces the aggressive nature of this disease with poor prognosis.展开更多
BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition o...BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition of this group of tumors as yet, and our overall understanding of its morphological features, therapeutic regimen and prognosis is limited.CASE SUMMARY A 34-year-old male patient was referred to our hospital to address a 2-mo history of hematuria and progressive dysuria. Pelvic computed tomography scan revealed a 6.0 cm × 5.2 cm × 7.2 cm mass in the prostate, with bladder invasion.The patient underwent transurethral prostatectomy as upfront therapy. He refused further treatment and died of uncontrollable tumor growth 3 mo after surgery. Pathology analysis revealed the stroma to be pleomorphic, with a huge number of atypical spindle cells. Rhabdomyoblastic cells, with abundant eosinophilic cytoplasm, were detected. The spindle cells were positive for vimentin, INI1 and β-catenin, and the rhabdomyoblastic cells were positive for MyoD1, myogenin and INI1. The spindle cells and epithelial cells were sporadically positive for P53.CONCLUSION The prostatic stromal sarcoma tumor was immunoreactive for β-catenin,suggesting a role for the Wnt/β-catenin pathway in this tumor type.展开更多
Rhabdoid tumor of kidney （RTK） is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and w...Rhabdoid tumor of kidney （RTK） is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and was defined as an independent disease in 1981. In the reported literatures, there were less in adolescents and extremely rare in adults.展开更多
Teratoid</span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span><span><span...Teratoid</span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">rhabdoid tumors are highly malignant, rare </span><span style="font-family:Verdana;">and</span><span style="font-family:Verdana;"> aggressive. The prognosis is very poor, with a pejorative and rapidly lethal evolution. The objective of this study was to show </span><span style="font-family:Verdana;">diagnostic</span><span style="font-family:Verdana;"> and therapeutic approach through the report of four observations of </span><span style="font-family:Verdana;">rhabdoid</span><span style="font-family:Verdana;"> tumor of the kidney in children, treated in the oncology unit at the pediatric department CHU Hassan II Fez Morocco, collected </span><span style="font-family:Verdana;">over a period of</span><span style="font-family:Verdana;"> 10 years. The ages of the patients varied from 8 months and 5 and a half, with 3 girls and a boy. All </span></span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">children</span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">have </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">abdominal distention with the discovery of a mass on clinical examination. </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">The </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">patients were treated </span><span style="font-family:Verdana;"展开更多
Introduction Rhabdoid meningioma （RM） is a special type of meningioma, The pathologic features of RM include sheets of rhabdoid tumor cells with or without the findings typical of conventional meningiomas. Since the...Introduction Rhabdoid meningioma （RM） is a special type of meningioma, The pathologic features of RM include sheets of rhabdoid tumor cells with or without the findings typical of conventional meningiomas. Since the disease is rare, and the histologic structure similar to that of other tumors, misdiagnosis and failure to include the entity in the differentiation can occur from time to time. In this article, the pathologic features and immunophenotype of RM are analyzed, in combination with analysis of a case treated at our institution and a review of the literature.展开更多
BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the literature.The tumor has a predominant rhabdoid cell component and different p...BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the literature.The tumor has a predominant rhabdoid cell component and different patterns of growth have been reported.CASE SUMMARY A 59-year-old woman presented with diffuse abdominal pain,increasing in severity and accompanied by weight loss,nausea,and vomiting.Imaging showed a pancreatic head mass.Fine needle aspiration demonstrated atypical epithelioid cells with a pseudopapillary growth pattern suggestive of solid pseudopapillary neoplasm.The excised neoplasm showed monotonous epithelioid and focally spindle cells with pseudopapillary structures,rhabdoid features,and loss of SMARCB1 protein expression with wild-type KRAS,consistent with a SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma.The patient’s condition deteriorated rapidly following surgery and she expired 3 mo post operation.CONCLUSION In this article,we report the first case of SMARCB1/INI1-deficient undifferentiated pancreatic rhabdoid carcinoma mimicking solid pseudopapillary neoplasm.展开更多
Meningiomas occur in 1%-4% of primary intracranial tumors in the pediatric group, and is increasing in incidence with age. Some authors have reported that meningioma is more prevalent among adult males, but there is n...Meningiomas occur in 1%-4% of primary intracranial tumors in the pediatric group, and is increasing in incidence with age. Some authors have reported that meningioma is more prevalent among adult males, but there is no gender prevalence. The accepted origin of meningiomas is from the arachnoid ceils lining the meninges, or the choroid plexuses. Since Beckwith and Palmer introduced the term ＇rhabdoid tumor＇ in 1978 in reference to a subgroup of childhood malignant renal tumors, many tumors with a rhabdoid morphology have been reported in various sites, including the central nervous system. In 1998 Kepes et al.展开更多
文摘Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.
基金Supported by Department of Pathology,the University of Texas Health Science Center at Houston,United States
文摘Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin(cytoplasmic membranous pattern) and CD56,and negative for smooth muscle actin, synaptophysin,CD117, CD45, myogenin, CAM5.2, pancytokeratin,WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1(SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.
文摘BACKGROUND Rhabdoid tumours of the central nervous system are highly malignant and extremely rare in adults.To the best of our knowledge,only 87 cases of malignant rhabdoid tumour have been reported to date,inclusive of 4 cases with presumed radiation-induced aetiology.We report a case of malignant rhabdoid tumour in an adult with presumed radiation-induced aetiology to enrich the armamentarium of this disease entity,which may have some implications for early diagnosis and treatment of this rare disease in the future.CASE SUMMARY A 27-year-old male,who was exposed to cranial irradiation at the age of 4 years as part of the treatment for acute lymphoblastic leukaemia,presented with symptoms of raised intracranial pressure for one week.Brain magnetic resonance imaging revealed a heterogeneously enhancing lesion at the hypothalamus.Stereotactic biopsy was performed.Histopathological examination of the lesion showed malignant rhabdoid tumour.The disease progressed rapidly,with manifestation of leptomeningeal spread.He was started on craniospinal irradiation but treatment was suspended after 5.4 Gy,as he developed myelosuppression.His clinical condition deteriorated rapidly,and he succumbed to his illness within 2 mo.CONCLUSION This fifth case of radiation-induced central nervous system rhabdoid tumour reenforces the aggressive nature of this disease with poor prognosis.
文摘BACKGROUND Prostatic stromal sarcoma presenting with rhabdoid features is extremely rare,and only four cases have been reported in the English-language literature to date.Accordingly, there is no absolute definition of this group of tumors as yet, and our overall understanding of its morphological features, therapeutic regimen and prognosis is limited.CASE SUMMARY A 34-year-old male patient was referred to our hospital to address a 2-mo history of hematuria and progressive dysuria. Pelvic computed tomography scan revealed a 6.0 cm × 5.2 cm × 7.2 cm mass in the prostate, with bladder invasion.The patient underwent transurethral prostatectomy as upfront therapy. He refused further treatment and died of uncontrollable tumor growth 3 mo after surgery. Pathology analysis revealed the stroma to be pleomorphic, with a huge number of atypical spindle cells. Rhabdomyoblastic cells, with abundant eosinophilic cytoplasm, were detected. The spindle cells were positive for vimentin, INI1 and β-catenin, and the rhabdomyoblastic cells were positive for MyoD1, myogenin and INI1. The spindle cells and epithelial cells were sporadically positive for P53.CONCLUSION The prostatic stromal sarcoma tumor was immunoreactive for β-catenin,suggesting a role for the Wnt/β-catenin pathway in this tumor type.
文摘Rhabdoid tumor of kidney （RTK） is a highly malignant tumor that occurs in infants and children, and approximately 80% of patients are diagnosed in the first two years of life. It was firstly described in 1978, and was defined as an independent disease in 1981. In the reported literatures, there were less in adolescents and extremely rare in adults.
文摘Teratoid</span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">rhabdoid tumors are highly malignant, rare </span><span style="font-family:Verdana;">and</span><span style="font-family:Verdana;"> aggressive. The prognosis is very poor, with a pejorative and rapidly lethal evolution. The objective of this study was to show </span><span style="font-family:Verdana;">diagnostic</span><span style="font-family:Verdana;"> and therapeutic approach through the report of four observations of </span><span style="font-family:Verdana;">rhabdoid</span><span style="font-family:Verdana;"> tumor of the kidney in children, treated in the oncology unit at the pediatric department CHU Hassan II Fez Morocco, collected </span><span style="font-family:Verdana;">over a period of</span><span style="font-family:Verdana;"> 10 years. The ages of the patients varied from 8 months and 5 and a half, with 3 girls and a boy. All </span></span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">children</span></span></span></span><span><span><span><span style="font-family:""> </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">have </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">abdominal distention with the discovery of a mass on clinical examination. </span></span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">The </span></span></span></span><span><span><span><span style="font-family:""><span style="font-family:Verdana;">patients were treated </span><span style="font-family:Verdana;"
文摘Introduction Rhabdoid meningioma （RM） is a special type of meningioma, The pathologic features of RM include sheets of rhabdoid tumor cells with or without the findings typical of conventional meningiomas. Since the disease is rare, and the histologic structure similar to that of other tumors, misdiagnosis and failure to include the entity in the differentiation can occur from time to time. In this article, the pathologic features and immunophenotype of RM are analyzed, in combination with analysis of a case treated at our institution and a review of the literature.
文摘BACKGROUND SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the literature.The tumor has a predominant rhabdoid cell component and different patterns of growth have been reported.CASE SUMMARY A 59-year-old woman presented with diffuse abdominal pain,increasing in severity and accompanied by weight loss,nausea,and vomiting.Imaging showed a pancreatic head mass.Fine needle aspiration demonstrated atypical epithelioid cells with a pseudopapillary growth pattern suggestive of solid pseudopapillary neoplasm.The excised neoplasm showed monotonous epithelioid and focally spindle cells with pseudopapillary structures,rhabdoid features,and loss of SMARCB1 protein expression with wild-type KRAS,consistent with a SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma.The patient’s condition deteriorated rapidly following surgery and she expired 3 mo post operation.CONCLUSION In this article,we report the first case of SMARCB1/INI1-deficient undifferentiated pancreatic rhabdoid carcinoma mimicking solid pseudopapillary neoplasm.
文摘Meningiomas occur in 1%-4% of primary intracranial tumors in the pediatric group, and is increasing in incidence with age. Some authors have reported that meningioma is more prevalent among adult males, but there is no gender prevalence. The accepted origin of meningiomas is from the arachnoid ceils lining the meninges, or the choroid plexuses. Since Beckwith and Palmer introduced the term ＇rhabdoid tumor＇ in 1978 in reference to a subgroup of childhood malignant renal tumors, many tumors with a rhabdoid morphology have been reported in various sites, including the central nervous system. In 1998 Kepes et al.
